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Pilot Study to Evaluate the Contribution of Gene Variants to Idiopathic Urolithiasis

This study is enrolling participants by invitation only.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01127854
First Posted: May 21, 2010
Last Update Posted: January 10, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by (Responsible Party):
William E. Haley, M.D., Mayo Clinic
  Purpose
Recent investigations from this group have identified that genetic variants of genes associated with monogenic forms of nephrolithiasis are expressed in idiopathic calcium oxalate kidney stone patients and could influence stone forming risk. Utilizing patient samples from the Mayo Clinic Florida Kidney Stone Registry, we will demonstrate that expression of these heterozygous mutations in idiopathic nephrolithiasis act as genetic modifiers of disease presentation increasing risk of kidney stone formation. Complimented by the analysis of environmental and lifestyle risk factors, these studies will define environmental and genetic susceptibility factors involved in kidney stone formation and reoccurrence.

Condition
Kidney Stones Urolithiasis Calcium Oxalate Urolithiasis

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Cross-Sectional
Official Title: Pilot Study to Evaluate the Contribution of Gene Variants to Idiopathic Urolithiasis

Resource links provided by NLM:


Further study details as provided by William E. Haley, M.D., Mayo Clinic:

Primary Outcome Measures:
  • To identify the frequency of known genetic variants associated with monogenic forms of nephrolithiasis within idiopathic stone forming populations and associate their presence with heightened risk. [ Time Frame: December 2018 ]

Biospecimen Retention:   Samples With DNA
Blood, Urine and DNA

Enrollment: 900
Study Start Date: December 2009
Estimated Study Completion Date: December 2018
Estimated Primary Completion Date: December 2018 (Final data collection date for primary outcome measure)
Groups/Cohorts
Cases
Controls

  Show Detailed Description

  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Mayo Clinic in Jacksonville, FL
Criteria

Inclusion Criteria:

Cases:

  • History of calcium oxalate stones
  • 18 years of age or older
  • Willing to provide a blood sample, and questionnaire

Controls:

  • 18 years of age or older
  • No personal history of urolithiasis
  • Willing to provide a blood sample and questionnaire

Exclusion Criteria:

Cases:

  • Secondary causes of urolithiasis including: Bowel disease, Renal tubular acidosis, hyperparathyroidism
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01127854


Locations
United States, Florida
Mayo Clinic
Jacksonville, Florida, United States, 32224
Sponsors and Collaborators
Mayo Clinic
Investigators
Principal Investigator: William E Haley, MD Mayo Clinic
  More Information

Responsible Party: William E. Haley, M.D., PI, Mayo Clinic
ClinicalTrials.gov Identifier: NCT01127854     History of Changes
Other Study ID Numbers: 09-007826
First Submitted: May 20, 2010
First Posted: May 21, 2010
Last Update Posted: January 10, 2017
Last Verified: January 2017

Keywords provided by William E. Haley, M.D., Mayo Clinic:
kidney stone
urolithiasis
calcium oxalate kidney stone
calcium oxalate stone
calcium oxalate

Additional relevant MeSH terms:
Kidney Calculi
Nephrolithiasis
Urolithiasis
Kidney Diseases
Urologic Diseases
Urinary Calculi
Calculi
Pathological Conditions, Anatomical